Primary ciliary dyskinesia: the patients grow up

Abstract

PCD is no longer a childhood disease and standards of care should be established from birth to late adulthood http://ow.ly/sORE300ZXI3

The study by Shah et al. [1] in this issue of the European Respiratory Journal presents data from the largest study of adults with primary ciliary dyskinesia (PCD) described up to date. It asks important questions relating to the phenotype and prognosis of this rare disease. The article describes the practices of a single UK PCD centre, and since the patterns of referral and follow-up vary between clinics, is not representative of all adults with PCD. However, the data represent a wealth of clinical experiences and give us pointers for further studies.

The prevalence of PCD is unclear because symptoms are nonspecific and a gold standard diagnostic test is lacking [2–4]. Due to limited knowledge about this rare disease, patients commonly fail to be referred for diagnostic testing [5]. Furthermore, surveys among physicians [6] and patients [5] show that the procedures used to diagnose PCD vary widely. A survey of a previous PCD task force of the European Respiratory Society focusing on paediatric services identified 1192 patients across Europe, the majority aged <20?years [7]. Prevalence of diagnosed cases among 0–14-year-olds was one in 10?000 to 20?000 in some countries, but much lower in others. Median age at diagnosis was 5.3?years, with considerable between-country variation. Many young adults aged 20–30?years were still in paediatric care. Diagnostics and management varied between and within countries [6]. Children and adolescents (aged 0–19?years) account for ?20% of the European population. As life expectancy in PCD is assumed to be near normal, we expect about four times as many adult PCD patients as children. This is in stark contrast to the paucity of publications on adults. In a systematic review, we searched for all papers reporting clinical characteristics of PCD patients, with a special focus on age-stratified data [8]. We found 17 studies describing paediatric populations, 32 describing populations of mixed age (including few, and mostly young, adults) and only three old studies focusing on adults [9–11].

Thus, patients with PCD seem to vanish from the research screen when they reach the age of 20?years. Are they not transitioned to adult pulmonology? Do they stop having scheduled visits? Do they die young?

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ORCID for Jane S. Lucas: orcid.org/0000-0001-8701-9975

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